Prevalence of the prion protein gene E211K variant in U.S. cattle

Michael P Heaton, John W Keele, Gregory P Harhay, Jürgen A Richt, Mohammad Koohmaraie, Tommy L Wheeler, Steven D Shackelford, Eduardo Casas, D Andy King, Tad S Sonstegard, Curtis P Van Tassell, Holly L Neibergs, Chad C Chase, Theodore S Kalbfleisch, Timothy PL Smith, Michael L Clawson, William W Laegreid

In 2006, an atypical U.S. case of bovine spongiform encephalopathy (BSE) was discovered in Alabama and later reported to be polymorphic for glutamate (E) and lysine (K) codons at position 211 in the bovine prion protein gene (Prnp) coding sequence. A bovine E211K mutation is important because it is analogous to the most common pathogenic mutation in humans (E200K) which causes hereditary Creutzfeldt - Jakob disease, an autosomal dominant form of prion disease. The present report describes a high-throughput matrix-associated laser desorption/ionization-time-of-flight mass spectrometry assay for scoring the Prnp E211K variant and its use to determine an upper limit for the K211 allele frequency in U.S. cattle.